Variant report

Variant	rs9994218
Chromosome Location	chr4:77112851-77112852
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:77108730..77110793-chr4:77112512..77115192,2	K562	blood:
2	chr4:77112114..77114114-chr4:77116048..77119897,3	K562	blood:

Variant related genes	Relation type
ENSG00000138760	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11941852	0.86[AMR][1000 genomes]
rs17001561	1.00[YRI][hapmap]
rs17001654	1.00[YRI][hapmap]
rs4241590	0.81[AMR][1000 genomes]
rs4544733	0.84[AMR][1000 genomes]
rs4552490	0.83[AMR][1000 genomes]
rs6532208	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs6532244	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6825004	0.93[YRI][hapmap]
rs6829581	0.80[AMR][1000 genomes]
rs6829784	1.00[YRI][hapmap]
rs6835324	1.00[YRI][hapmap]
rs7657598	1.00[CHB][hapmap];0.86[AMR][1000 genomes]
rs7675253	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9994282	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461558	chr4:77033725-77115553	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv594694	chr4:77033725-77115553	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1000178	chr4:77053046-77113080	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9994218	NAAA	cis	Thyroid	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77070600-77113600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:77071200-77113600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:77080600-77113600	Weak transcription	Thymus	Thymus
4	chr4:77090000-77113600	Weak transcription	A549	lung
5	chr4:77090200-77113000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:77090200-77114800	Weak transcription	Hela-S3	cervix
7	chr4:77091000-77114200	Weak transcription	HMEC	breast
8	chr4:77094400-77113800	Weak transcription	Fetal Thymus	thymus
9	chr4:77095000-77113400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr4:77096200-77113200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr4:77096200-77113400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr4:77096800-77114000	Weak transcription	Small Intestine	intestine
13	chr4:77097000-77113200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:77097000-77113200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:77097000-77113200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr4:77097200-77113600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:77097400-77113400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr4:77097400-77113400	Weak transcription	Fetal Brain Male	brain
19	chr4:77097400-77115000	Weak transcription	NH-A	brain
20	chr4:77097600-77119600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:77097800-77113400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr4:77098000-77113000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr4:77100400-77113000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:77101000-77113400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr4:77101400-77113000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:77101400-77113000	Weak transcription	Dnd41	blood
27	chr4:77101400-77113400	Weak transcription	HSMMtube	muscle
28	chr4:77101400-77114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:77104600-77113800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:77105600-77115000	Weak transcription	Fetal Heart	heart
31	chr4:77107200-77113200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:77107200-77113200	Weak transcription	Fetal Kidney	kidney
33	chr4:77107400-77113000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr4:77107600-77113400	Weak transcription	Spleen	Spleen
35	chr4:77107800-77113000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:77107800-77113600	Weak transcription	HepG2	liver
37	chr4:77107800-77114000	Weak transcription	HUVEC	blood vessel
38	chr4:77107800-77114200	Weak transcription	Right Atrium	heart
39	chr4:77107800-77114800	Weak transcription	Colonic Mucosa	Colon
40	chr4:77108200-77113200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr4:77108600-77113400	Weak transcription	HSMM	muscle
42	chr4:77109400-77113400	Strong transcription	Fetal Intestine Large	intestine
43	chr4:77109600-77113400	Strong transcription	Fetal Muscle Leg	muscle
44	chr4:77109600-77113600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr4:77109600-77113800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:77109800-77113000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:77109800-77113400	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr4:77109800-77117400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr4:77110000-77113400	Weak transcription	Colon Smooth Muscle	Colon
50	chr4:77110000-77113400	Weak transcription	Rectal Mucosa Donor 31	rectum

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